title: A novel mutation (E358K) in the alpha-galactosidase A gene detected in a Japanese family with Fabry disease.
authors.affiliation: Department of Endocrinology and Metabolism, Research Institute of Environmental Medicine, Nagoya University, Japan.
authors.forename: T
authors.initials: T
authors.lastname: Miyazaki
authors.forename: M
authors.initials: M
authors.lastname: Kajita
authors.forename: S
authors.initials: S
authors.lastname: Ohmori
authors.forename: N
authors.initials: N
authors.lastname: Mizutani
authors.forename: T
authors.initials: T
authors.lastname: Niwa
authors.forename: Y
authors.initials: Y
authors.lastname: Murata
authors.forename: H
authors.initials: H
authors.lastname: Seo
mesh_terms: D000293:Adolescent; D000328:Adult; D019943:Amino Acid Substitution; D001483:Base Sequence; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D000795:Fabry Disease / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D005192:Family Health; D005260:Female; D018698:Glutamic Acid; D006801:Humans; D007564:Japan; D008239:Lysine; D008297:Male; D009154:Mutation; D010375:Pedigree; D017354:Point Mutation; D000519:alpha-Galactosidase / Q000235:genetics*
chemical_list: D018698:Glutamic Acid; D004247:DNA; D000519:alpha-Galactosidase; D008239:Lysine